Abstract：
:Several common KCNQ1 gene polymorphisms have been associated with the risk of type 2 diabetes (T2DM) and diabetic nephropathy. This effect is explained by the role of the kcnq1 protein as a potassium channel that in the pancreatic beta-cells drives an electrical signal that facilitates glucose-stimulated insulin secretion. The KCNQ1 gene is also expressed in the kidney, and could thus be implicated in the risk of developing impaired renal function. To test this hypothesis, we genotyped six common KCNQ1 gene variants (three single nucleotide polymorphisms, rs2237892, rs2237895, and rs231362, and three intronic indels) in 681 healthy elderly individuals (>65 years old) from the Spanish Renastur cohort. None of the six variants was associated with T2DM (180 diabetics vs. 581 non-diabetics). The intron 12 insertion allele was associated with a reduced estimated glomerular filtration rate (eGFR<60, n = 90 vs. eGFR≥60, n = 591; II vs ID + DD genotypes, p = 0.031, OR = 2.06, 95%CI = 1.12-4.14). We also performed a next generation sequencing search of variants in the coding regions of the KCNQ1 gene in 100 individuals with the extreme eGFR values. We found two rare amino acid changes (p.K393N and p.P408A) and the 393 Asn variant was found only among diabetics (n = 4; p = 0.05). The two rare alleles were present in the two eGFR groups. Our results suggest that a common KCNQ1 intron 12 indel polymorphism is a risk factor for impaired renal function independent of T2DM. If this association is confirmed by others, further research to determine the mechanism that drives this association would be warranted.
journal_name
Mol Cell Endocrinoljournal_title
Molecular and cellular endocrinologyauthors
Riobello C,Gómez J,Gil-Peña H,Tranche S,Reguero JR,de la Hera JM,Delgado E,Calvo D,Morís C,Santos F,Coto-Segura P,Iglesias S,Alonso B,Alvarez V,Coto Edoi
10.1016/j.mce.2016.03.007subject
Has Abstractpub_date
2016-05-15 00:00:00pages
86-91eissn
0303-7207issn
1872-8057pii
S0303-7207(16)30055-7journal_volume
427pub_type
杂志文章abstract：:The Cre-loxP system combined with gene targeting strategies has proven to be very useful for gene inactivation in specific tissues and/or cell types. To achieve adrenal cortex specific recombination in vivo, we used a 0.5-kb fragment of the 5'-flanking region of the akr1b7 gene to drive Cre expression in adrenocortica...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2008.10.045
更新日期：2009-03-05 00:00:00
abstract：:Thyroid hormone (TH) has a remarkable range of actions in the development and function of the nervous system. A multigenic picture is emerging of the mechanisms that specify these diverse functions in target tissues. Distinct responses are mediated by alpha and beta isoforms of TH receptor which act as ligand-regulate...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
doi：10.1016/j.mce.2008.03.006
更新日期：2008-06-11 00:00:00
abstract：:It has been reported that testicular Sertoli cells can be induced to synthesize the steroidogenic acute regulatory (StAR) protein. StAR mediates the rate-limiting step of steroidogenesis, which is the transfer of cholesterol to the inner mitochondrial membrane. Since Sertoli cells are thought to be unable to utilize c...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/s0303-7207(99)00155-0
更新日期：1999-11-25 00:00:00
abstract：:As part of a study concerning the mechanism of mammotroph autoregulation, the intracellular fate of [125I]iodo rat PRL, internalized by mammotrophs, was determined by quantitative electron microscope autoradiography. Simple grain density (GD) analysis of mammotroph autoradiograms showed that 5 cellular compartments (p...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(85)90057-7
更新日期：1985-10-01 00:00:00
abstract：:Testes from rats of different maturational ages were explored for presence of paracrine sertoli cell growth factors. Pubertal and adult testes contained a 17 kDa protein, with potent stimulatory effect on immature Sertoli cell multiplication in vitro. The bioactivity of this protein was mimicked by rat interleukin-1 (...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/s0303-7207(01)00680-3
更新日期：2002-01-15 00:00:00
abstract：:Recent evidence suggests that lymphocytes produce prolactin (PRL). Here, we report the cDNA cloning and expression of PRL from normal human thymocytes. Sequence analysis showed that the thymocyte cDNA encodes a 23 kDa protein which is identical to pituitary PRL. RNA blot analysis showed that the thymocyte PRL mRNA is ...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(92)90251-z
更新日期：1992-09-01 00:00:00
abstract：:In Manduca sexta, basal and PTTH-stimulated secretion of ecdysteroids by prothoracic glands in vitro increases from days 1 to 4 of the fifth larval stage. Glandular content of cAMP-dependent protein kinase was analyzed to determine if the enzyme changes in concert with increased secretory response. Photoaffinity label...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(93)90151-9
更新日期：1993-01-01 00:00:00
abstract：:A recent hypothesis suggests that a high glycaemic load diet-associated increase of insulin-like growth factor-1 (IGF-1) and insulin may promote acne by reducing nuclear localization of the forkhead box-O1 (FoxO1) transcription factor via activation of the phosphoinositide-3-kinase (PI3K)/Akt pathway. Using SZ95 seboc...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2015.08.001
更新日期：2015-11-05 00:00:00
abstract：:B cell-specific Moloney murine leukaemia virus integration site 1 (Bmi1), known as the first functional member of PcG (Polycomb Group) family, is supposed to be a key regulator of stem cell self-proliferation. In this study, we investigated its expression in testis and its impact on spermatogonia proliferation for bet...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2008.01.008
更新日期：2008-06-11 00:00:00
abstract：:The androgen receptor (AR), which mediates androgen action in the cell, belongs to the superfamily of nuclear receptors, a large group of transcription factors. Recent studies have described how the AR acts on specific target genes. The receptor's specificity of action depends on its regulation at different levels: ex...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
doi：10.1016/s0303-7207(02)00364-7
更新日期：2002-12-30 00:00:00
abstract：:The role of estrogens produced by the testis may involve negative feedback regulation of androgen biosynthesis. Estrogens are also associated with contractile processes of seminiferous tubules, and might have mitogenic effects on Sertoli and Leydig cells. To investigate the location of aromatase (estrogen synthetase) ...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/s0303-7207(01)00444-0
更新日期：2001-06-10 00:00:00
abstract：:The present study was aimed at characterizing the deficiency of the glucocorticoid-receptor system in the immature pituitary gland of neonatal rats. Under conditions of both constant protein and DNA concentrations, [3H]dexamethasone binding to nuclei was significantly lower in the immature, compared with the mature, g...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(82)90038-7
更新日期：1982-09-01 00:00:00
abstract：:Heat shock protein 90 (Hsp90) has been demonstrated in both cytoplasm and nucleus, and regulates cytoplasmic retention of glucocorticoid receptor (GR). However, the role of nuclear Hsp90 in GR trafficking is less characterized. The present study examined the role of Hsp90 in nuclear retention of GR after ligand withdr...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2003.10.057
更新日期：2004-01-15 00:00:00
abstract：:Under physiological conditions substantial amounts of hormone may be degraded within endocrine cells by a crinophagic process comprising fusions of secretory granules with lysosomes. Glucocorticoids may stabilise and progesterone destabilise lysosomal membranes. The effects of corticosterone and progesterone on intrac...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2007.07.007
更新日期：2007-10-15 00:00:00
abstract：:Advanced glycation end products (AGEs), formed at an accelerated rate under diabetes, play a role in inflammation and fibrosis in mesangial areas in diabetic nephropathy (DN). However, the transcriptional modulator that mediates the cellular response to AGEs remains largely obscure. Our goal was to determine whether m...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2017.07.014
更新日期：2018-01-15 00:00:00
abstract：:The effects of thyroid hormone on insulin-like growth factor I (IGF-I) production by Sertoli cells isolated from immature rats have been investigated. In Sertoli cells from hypothyroid rats the production of IGF-I was significantly lower than in controls and was greatly stimulated by the administration of triiodothyro...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(90)90170-d
更新日期：1990-01-02 00:00:00
abstract：:The orphan nuclear receptor steroidogenic factor 1 (SF-1) was identified originally as a key regulator of the tissue-specific expression of the cytochrome P450 steroid hydroxylases. Hints at considerably broader roles for SF-1 came from analyses of its expression pattern in mouse embryos. As anticipated, SF-1 was expr...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
doi：10.1016/s0303-7207(99)00237-3
更新日期：2000-05-25 00:00:00
abstract：:The human adrenal cortex is a complex endocrine organ that secretes mineralocorticoids, glucocorticoids and adrenal androgens. These steroids arise from morphologically and biochemically distinct zones of the adrenal gland. Studying secretion of these distinct steroid hormones can make use of cells isolated from the a...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
doi：10.1016/j.mce.2003.12.020
更新日期：2004-12-30 00:00:00
abstract：:Basal and gonadotropin stimulated adenylate cyclase activity was assessed in testicular tissues obtained from men (20-80 years). A disparity was observed in the gonadotropin responsiveness of the human testicular adenylate cyclase system to hFSH and hCG stimulation. Of the tissues analyzed, 61% were FSH responsive and...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(85)90006-1
更新日期：1985-08-01 00:00:00
abstract：:The earliest known induction by estrogen of a specific uterine protein is that of the induced protein (IP) of Gorski and colleagues, which is demonstrable within 40 min after treatment. We found that this protein is not restricted to the rat; it was detected i the uterus of prepuberal C3H/eB and SWR mice, 1 h after i...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(76)90051-4
更新日期：1976-05-01 00:00:00
abstract：:Obesity may cause several metabolic complications, including insulin resistance and type 2 diabetes mellitus. Despite great advances in medicine, people still keep exploring novel and effective drugs for treatment of obesity and insulin resistance. The aim of this study was to survey if baicalin might ameliorate obesi...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2017.03.027
更新日期：2017-06-15 00:00:00
abstract：:Type-1 diabetes (T1D) is a heterogeneous autoimmune disease, and there are pathogenetic differences between young- and adult-onset T1D patients. We hypothesized that the expressions of genes involved in costimulatory immune system pathways in peripheral blood are differently regulated in young- and adult-onset T1D. St...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2015.05.012
更新日期：2015-09-05 00:00:00
abstract：:The regulation of heat shock protein 90 kDa (hsp90) by estradiol was analyzed in the rat ventromedial hypothalamus (VMH) and uterus by one-dimensional gel electrophoresis/Western blots. Protein from VMH and uterus (35 micrograms/sample) was resolved on 8% acrylamide gels, transferred to polyvinyldifluoride filters, an...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(92)90028-5
更新日期：1992-04-01 00:00:00
abstract：:Inhibin is a member of the TGF-beta superfamily of growth and differentiation factors and a tumor suppressor. Consistent with the tumor suppressive function of the inhibin alpha subunit in prostate cancer, we reported a loss of gene expression due to DNA hypermethylation and loss of heterozygosity (LOH) as well as dow...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2004.02.015
更新日期：2004-10-15 00:00:00
abstract：:The gene encoding ovine 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta-HSD2) was cloned and characterized. This gene consists of five exons and is greater than 4 kb in length. It contains an open reading frame of 1215 bp, which encodes a protein of 404 amino acids with a predicted MW of 44 kDa. The deduced ovine...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(96)03775-6
更新日期：1996-05-17 00:00:00
abstract：:Thyroid hormone receptor alpha (TRalpha) and the oncoprotein v-erbA (a mutated form of TRalpha incapable of binding T3) bind as heterodimers with retinoid X receptor (RXR) to DNA sequences with different orientations of AGGTCA half sites. v-erbA can also form homodimers, whereas, TRalpha1 homodimerizes poorly. Therefo...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/s0303-7207(02)00299-x
更新日期：2003-01-31 00:00:00
abstract：:The ovarian granulosa cell has previously been shown to be a site of insulin-like growth factor (IGF) I production, reception, and action. It is the objective of this study to characterize in greater detail the soluble IGF binding activity released by this cell type. To this end, use was made of granulosa cells from i...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(90)90222-t
更新日期：1990-12-21 00:00:00
abstract：:In order to study the distribution of LH (HCG) receptors on luteal cells ferritin was coupled to ovine LH with glutaraldehyde and purified by gel chromatography. The conjugate (FELH) competed with 125I-hCG for binding to isolated luteal membranes and stimulated a dose-dependent release of progesterone (P) from isolate...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(79)90008-x
更新日期：1979-08-01 00:00:00
abstract：:Ultraviolet radiation B stimulates both the production of vitamin D3 in the skin and the activation of the skin analog of the hypothalamic-pituitary-adrenal axis (HPA) as well as the central HPA. Since the role of vitamin D3 in the regulation of the HPA is largely unknown, we investigated the impact of 1,25(OH)2D3 and...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2016.08.006
更新日期：2016-12-05 00:00:00
abstract：:The presence of insulin resistance is increasingly recognized as an important contributor to early stage kidney disease independent of the contribution of diabetes. Important in this relationship is the strong correlation between hyperinsulinemia and low levels of albuminuria (e.g. microalbuminuria). Recent work highl...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
doi：10.1016/j.mce.2013.02.005
更新日期：2013-09-25 00:00:00
